Variant report

Variant	rs57518274
Chromosome Location	chr8:130492056-130492057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130484819..130486542-chr8:130491250..130493226,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs56971928	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130487800-130494800	Genic enhancers	K562	blood
2	chr8:130488000-130492600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:130489800-130492200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:130489800-130492800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:130490000-130492200	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:130490000-130492400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:130490200-130492200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:130490200-130492200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:130490200-130492200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:130490200-130492200	Weak transcription	Brain Angular Gyrus	brain
11	chr8:130490200-130492600	Weak transcription	NHDF-Ad	bronchial
12	chr8:130490200-130503400	Weak transcription	Dnd41	blood
13	chr8:130490400-130492400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:130491000-130492600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:130491400-130492200	Enhancers	Colon Smooth Muscle	Colon
16	chr8:130491400-130492800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:130491400-130492800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:130491600-130492200	Enhancers	Stomach Smooth Muscle	stomach
19	chr8:130491600-130492400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:130491600-130493200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:130491600-130493200	Enhancers	Brain Germinal Matrix	brain
22	chr8:130491600-130493800	Enhancers	Fetal Stomach	stomach
23	chr8:130491800-130492200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:130491800-130493400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:130491800-130493400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:130491800-130493600	Enhancers	Rectal Smooth Muscle	rectum
27	chr8:130492000-130492200	Enhancers	Fetal Muscle Trunk	muscle
28	chr8:130492000-130492200	Enhancers	NHLF	lung
29	chr8:130492000-130492400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:130492000-130492600	Enhancers	Fetal Kidney	kidney
31	chr8:130492000-130492800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:130492000-130492800	Enhancers	HSMMtube	muscle
33	chr8:130492000-130493000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:130492000-130493000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:130492000-130493200	Enhancers	NH-A	brain
36	chr8:130492000-130493200	Enhancers	Osteobl	bone
37	chr8:130492000-130493400	Enhancers	HSMM	muscle
38	chr8:130492000-130493600	Weak transcription	Ovary	ovary
39	chr8:130492000-130494000	Enhancers	Fetal Muscle Leg	muscle

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